About   Help   FAQ
Disease Ontology Browser
Lafora disease (DOID:3534)
Alliance: disease page
Synonyms: Lafora Progressive Myoclonic Epilepsy; Lafora's disease; MYOCLONIC EPILEPSY OF LAFORA
Alt IDs: OMIM:254780, MESH:D020192, NCI:C84804, UMLS_CUI:C0751783
Definition: A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.

Disease References using Mouse Models (18)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory